Sebastian syndrome (Q96602): Difference between revisions
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Síndrome de Sebastian é uma das síndromes MYH9 (um grupo que inclui quatro formas clínicas com manifestações semelhantes resultantes de mutações no gene MYH9: anomalia de May-Hegglin e síndromes de Fechtner e Epstein), que são caracterizadas por uma macrotrombocitopenia geralmente grave mas paradoxalmente resulta em poucos ou nenhum sintoma. | |||
| description / en | description / en | ||
Sebastian syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Fechtner and Epstein syndromes), which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. | |||
Revision as of 12:37, 16 August 2026
Sebastian syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Fechtner and Epstein syndromes), which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1578628103 |
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| English | Sebastian syndrome |
Sebastian syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Fechtner and Epstein syndromes), which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. |
